Variant report

Variant	nsv880838
Chromosome Location	chr5:44805926-44836788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:904)
CpG islands
(count:856)
Chromatin interactive
region (count:43)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:904 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:44808606-44809530	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:44809867-44810155	K562	blood:	n/a	n/a
3	ARID3A	chr5:44808615-44809027	K562	blood:	n/a	n/a
4	ATF1	chr5:44808659-44809228	K562	blood:	n/a	n/a
5	ATF1	chr5:44834388-44834439	K562	blood:	n/a	n/a
6	ATF1	chr5:44807350-44807613	K562	blood:	n/a	n/a
7	ATF1	chr5:44806365-44807047	K562	blood:	n/a	n/a
8	ATF2	chr5:44808557-44809157	GM12878	blood:	n/a	n/a
9	ATF2	chr5:44808643-44809367	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr5:44809365-44809713	K562	blood:	n/a	n/a
11	ATF3	chr5:44808694-44809086	K562	blood:	n/a	n/a
12	BACH1	chr5:44812721-44812997	K562	blood:	n/a	n/a
13	BACH1	chr5:44807560-44807730	K562	blood:	n/a	n/a
14	BCLAF1	chr5:44808520-44809248	GM12878	blood:	n/a	n/a
15	BHLHE40	chr5:44808837-44809612	HepG2	liver:	n/a	n/a
16	BHLHE40	chr5:44808613-44810001	GM12878	blood:	n/a	n/a
17	BHLHE40	chr5:44808566-44810152	K562	blood:	n/a	n/a
18	BRCA1	chr5:44809441-44810447	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr5:44808997-44809228	HepG2	liver:	n/a	n/a
20	BRCA1	chr5:44808256-44809228	Hela-S3	cervix:	n/a	n/a
21	CBX3	chr5:44808529-44809395	HCT-116	colon:	n/a	n/a
22	CBX3	chr5:44808635-44809235	K562	blood:	n/a	n/a
23	CBX3	chr5:44808641-44809341	HCT-116	colon:	n/a	n/a
24	CBX3	chr5:44808620-44809310	K562	blood:	n/a	n/a
25	CCNT2	chr5:44814056-44814236	K562	blood:	n/a	n/a
26	CCNT2	chr5:44819239-44819439	K562	blood:	n/a	n/a
27	CCNT2	chr5:44808711-44809742	K562	blood:	n/a	n/a
28	CEBPB	chr5:44808729-44809224	ECC-1	luminal epithelium:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
29	CEBPB	chr5:44808730-44809291	IMR90	lung:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
30	CEBPB	chr5:44808722-44809277	H1-hESC	embryonic stem cell:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
31	CEBPB	chr5:44808558-44810095	Hela-S3	cervix:	n/a	chr5:44808908-44808916 chr5:44808596-44808607 chr5:44808924-44808937 chr5:44808925-44808936 chr5:44808594-44808607
32	CEBPB	chr5:44808478-44809340	K562	blood:	n/a	chr5:44808908-44808916 chr5:44808596-44808607 chr5:44808924-44808937 chr5:44808925-44808936 chr5:44808594-44808607
33	CEBPB	chr5:44811150-44811434	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr5:44808729-44809218	A549	lung:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
35	CEBPB	chr5:44810956-44811416	K562	blood:	n/a	chr5:44810972-44810984
36	CEBPB	chr5:44808691-44809335	ECC-1	luminal epithelium:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
37	CEBPB	chr5:44808540-44809474	HCT-116	colon:	n/a	chr5:44808908-44808916 chr5:44808596-44808607 chr5:44808924-44808937 chr5:44808925-44808936 chr5:44808594-44808607
38	CEBPB	chr5:44808714-44809296	HepG2	liver:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
39	CEBPB	chr5:44808628-44809266	MCF-7	breast:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
40	CEBPB	chr5:44808703-44809264	HepG2	liver:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
41	CEBPB	chr5:44808501-44809447	HCT-116	colon:	n/a	chr5:44808908-44808916 chr5:44808596-44808607 chr5:44808924-44808937 chr5:44808925-44808936 chr5:44808594-44808607
42	CEBPB	chr5:44808659-44809388	A549	lung:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
43	CEBPB	chr5:44808761-44809187	K562	blood:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
44	CEBPB	chr5:44806972-44807745	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr5:44809633-44809978	K562	blood:	n/a	n/a
46	CEBPB	chr5:44808676-44809322	A549	lung:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
47	CEBPB	chr5:44808594-44809293	K562	blood:	n/a	chr5:44808908-44808916 chr5:44808596-44808607 chr5:44808924-44808937 chr5:44808925-44808936 chr5:44808594-44808607
48	CEBPB	chr5:44808628-44809421	MCF-7	breast:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
49	CEBPB	chr5:44808768-44809156	HepG2	liver:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
50	CEBPB	chr5:44808690-44809216	HepG2	liver:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:44806923-44806973	GM12878	blood:	n/a
2	chr5:44809054-44809104	HRCEpiC	kidney:	n/a
3	chr5:44806923-44806973	GM12878	blood:	n/a
4	chr5:44809054-44809104	HRCEpiC	kidney:	n/a
5	chr5:44806923-44806973	AG09319	gingival:	n/a
6	chr5:44809978-44810028	Hepatocyte	liver:	n/a
7	chr5:44808985-44809035	HRCEpiC	kidney:	n/a
8	chr5:44809054-44809104	GM12891	blood:	n/a
9	chr5:44808992-44809042	HCF	heart:	n/a
10	chr5:44808985-44809035	AG10803	skin:	n/a
11	chr5:44806923-44806973	A549	lung:	n/a
12	chr5:44809829-44809879	HIPEpiC	eye:	n/a
13	chr5:44809054-44809104	HEK293	kidney:	embryo
14	chr5:44809978-44810028	HRE	kidney:	n/a
15	chr5:44809098-44809148	HEEpiC	esophagus:	n/a
16	chr5:44809616-44809666	PrEC	prostate:	n/a
17	chr5:44808944-44808994	ProgFib	skin:	n/a
18	chr5:44808879-44808929	ECC-1	luminal epithelium:	n/a
19	chr5:44809098-44809148	U87	brain:	n/a
20	chr5:44809829-44809879	SKMC	muscle:	n/a
21	chr5:44807541-44807591	Caco-2	colon:	n/a
22	chr5:44809616-44809666	AG04450	lung:	fetal
23	chr5:44808985-44809035	PANC-1	pancreas:	n/a
24	chr5:44807541-44807591	GM06990	blood:	n/a
25	chr5:44808992-44809042	SK-N-SH_RA	brain:	n/a
26	chr5:44809054-44809104	HIPEpiC	eye:	n/a
27	chr5:44808838-44808888	HUVEC	blood vessel:	n/a
28	chr5:44809098-44809148	ProgFib	skin:	n/a
29	chr5:44808792-44808842	NHDF-neo	bronchial:	n/a
30	chr5:44809829-44809879	AG10803	skin:	n/a
31	chr5:44807541-44807591	AG09309	skin:	n/a
32	chr5:44809054-44809104	SKMC	muscle:	n/a
33	chr5:44809098-44809148	GM12878	blood:	n/a
34	chr5:44808985-44809035	MCF-7	breast:	n/a
35	chr5:44809789-44809839	HEEpiC	esophagus:	n/a
36	chr5:44808992-44809042	HCPEpiC	choroid plexus:	n/a
37	chr5:44808992-44809042	GM12891	blood:	n/a
38	chr5:44808879-44808929	NT2-D1	testis:	n/a
39	chr5:44809054-44809104	LNCaP	prostate:	n/a
40	chr5:44809829-44809879	HCF	heart:	n/a
41	chr5:44808879-44808929	IMR90	lung:	fetal
42	chr5:44809054-44809104	HRE	kidney:	n/a
43	chr5:44809054-44809104	HPAEpiC	pulmonary alveolar:	n/a
44	chr5:44807541-44807591	HRCEpiC	kidney:	n/a
45	chr5:44809054-44809104	HepG2	liver:	n/a
46	chr5:44808992-44809042	AG10803	skin:	n/a
47	chr5:44809829-44809879	U87	brain:	n/a
48	chr5:44807541-44807591	SK-N-SH	brain:	n/a
49	chr5:44808792-44808842	HCM	heart:	n/a
50	chr5:44809789-44809839	ovcar-3	ovarian:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:53793010..53793667-chr5:44808690..44809499,2	Hela-S3	cervix:
2	chr5:44808698..44809442-chr6:36410427..36411129,2	Hela-S3	cervix:
3	chr5:44800337..44802609-chr5:44815368..44818346,2	K562	blood:
4	chr5:44817948..44820754-chr5:44857369..44859717,2	K562	blood:
5	chr15:93425618..93426327-chr5:44808930..44809610,2	Hela-S3	cervix:
6	chr5:44822913..44824957-chr5:44836679..44838999,2	K562	blood:
7	chr5:44818219..44821058-chr5:44821890..44824873,2	MCF-7	breast:
8	chr5:44819705..44824396-chr5:44829069..44835270,7	K562	blood:
9	chr5:43119582..43121268-chr5:44806761..44809128,2	K562	blood:
10	chr12:49392278..49393242-chr5:44808988..44809561,2	Hela-S3	cervix:
11	chr5:44808786..44809598-chr5:172197780..172198613,2	Hela-S3	cervix:
12	chr5:44808999..44809744-chr7:72971733..72972413,2	Hela-S3	cervix:
13	chr4:40058800..40059461-chr5:44808324..44809273,2	Hela-S3	cervix:
14	chr14:23938468..23939352-chr5:44808810..44809313,2	Hela-S3	cervix:
15	chr5:44808957..44809562-chr9:124132087..124132930,2	Hela-S3	cervix:
16	chr5:44821381..44823863-chr5:44831325..44835475,4	K562	blood:
17	chr5:44812314..44814575-chr5:44831286..44832977,2	K562	blood:
18	chr11:17099102..17099608-chr5:44808888..44809410,2	Hela-S3	cervix:
19	chr5:44808723..44809249-chr7:100026295..100026950,2	Hela-S3	cervix:
20	chr3:196044330..196045109-chr5:44808668..44809542,2	Hela-S3	cervix:
21	chr16:2317728..2318295-chr5:44808823..44809613,2	Hela-S3	cervix:
22	chr3:132440899..132441670-chr5:44809571..44810212,2	Hela-S3	cervix:
23	chr5:44818219..44821058-chr5:44821890..44824873,2	MCF-7	breast:
24	chr1:77684507..77685215-chr5:44808668..44809523,2	Hela-S3	cervix:
25	chr2:191745250..191746774-chr5:44808743..44810659,2	MCF-7	breast:
26	chr5:44808556..44810835-chr5:44829625..44832716,3	K562	blood:
27	chr2:171785493..171786293-chr5:44809583..44810173,2	Hela-S3	cervix:
28	chr4:83821443..83822373-chr5:44808683..44809463,2	Hela-S3	cervix:
29	chr5:44822913..44824957-chr5:44836679..44838999,2	K562	blood:
30	chr5:44808765..44814014-chr5:44819023..44823010,7	MCF-7	breast:
31	chr5:43601796..43604385-chr5:44808876..44810396,2	K562	blood:
32	chr5:44821381..44823863-chr5:44831325..44835475,4	K562	blood:
33	chr5:44799408..44802083-chr5:44803871..44806335,2	K562	blood:
34	chr10:71929901..71930548-chr5:44808772..44809281,2	Hela-S3	cervix:
35	chr10:102821336..102821906-chr5:44808729..44809463,2	Hela-S3	cervix:
36	chr20:61557361..61558053-chr5:44808686..44809479,2	Hela-S3	cervix:
37	chr17:7591709..7592384-chr5:44809087..44809902,2	Hela-S3	cervix:
38	chr5:44821717..44824511-chr5:44825492..44828126,3	K562	blood:
39	chr17:73775676..73776311-chr5:44809199..44809853,2	Hela-S3	cervix:
40	chr5:44812314..44818024-chr5:44831286..44835501,6	K562	blood:
41	chr5:44812314..44814575-chr5:44831286..44832977,2	K562	blood:
42	chr19:14529681..14530530-chr5:44809016..44809604,2	Hela-S3	cervix:
43	chr5:44819705..44824396-chr5:44829069..44835270,7	K562	blood:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGF10-3	chr5:44813019-44813187	l_2917_chr5:44777367-44844699_brain
2	lnc-FGF10-3	chr5:44808744-44808844	ENSG00000251141.1
3	lnc-FGF10-3	chr5:44808744-44808879	ENSG00000251141.1
4	lnc-FGF10-3	chr5:44808744-44808895	NR_109862
5	lnc-FGF10-3	chr5:44808744-44808828	ENSG00000251141.1
6	lnc-MRPS30-7	chr5:44816545-44820530	NONHSAT101352
7	lnc-FGF10-3	chr5:44808744-44808895	NR_109864
8	lnc-FGF10-3	chr5:44808744-44808881	NONHSAT147331
9	lnc-FGF10-3	chr5:44808744-44808843	ENSG00000251141.1
10	lnc-MRPS30-8	chr5:44826178-44828694	ENSG00000272335.1
11	lnc-MRPS30-8	chr5:44832987-44833074	NONHSAT101354
12	lnc-FGF10-3	chr5:44808744-44808861	ENSG00000251141.1
13	lnc-FGF10-3	chr5:44808744-44808861	ENSG00000251141.1
14	lnc-FGF10-3	chr5:44808744-44808895	NR_109865
15	lnc-FGF10-3	chr5:44808744-44808768	ENSG00000251141.1
16	lnc-FGF10-3	chr5:44812180-44813015	l_2917_chr5:44777367-44844699_brain
17	lnc-MRPS30-8	chr5:44836107-44836603	NONHSAT101354
18	lnc-FGF10-3	chr5:44813768-44813851	l_2917_chr5:44777367-44844699_brain
19	lnc-FGF10-3	chr5:44808744-44808838	ENSG00000251141.1
20	lnc-FGF10-3	chr5:44808744-44808895	NR_109863
21	lnc-MRPS30-7	chr5:44815321-44815665	NONHSAT101352
22	lnc-MRPS30-8	chr5:44830990-44831818	NONHSAT101354
23	lnc-MRPS30-8	chr5:44826678-44828418	NONHSAT101354

No data

Variant related genes	Relation type
ENSG00000251141	TF binding region
MRPS30	TF binding region
ENSG00000272335	TF binding region
ENSG00000251141	CpG island
MRPS30	CpG island
ENSG00000272335	CpG island
ENSG00000112996	chromatin interactions
ENSG00000272741	chromatin interactions
ENSG00000272335	chromatin interactions
ENSG00000115419	chromatin interactions
ENSG00000148175	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000260778	chromatin interactions
ENSG00000141499	chromatin interactions
ENSG00000110700	chromatin interactions
ENSG00000120129	chromatin interactions
ENSG00000142892	chromatin interactions
ENSG00000157193	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000251141	chromatin interactions
ENSG00000113971	chromatin interactions
ENSG00000115806	chromatin interactions
ENSG00000107821	chromatin interactions
ENSG00000129460	chromatin interactions
ENSG00000079332	chromatin interactions
ENSG00000112992	chromatin interactions
ENSG00000181418	chromatin interactions
ENSG00000112078	chromatin interactions
ENSG00000123136	chromatin interactions
ENSG00000179165	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000138674	chromatin interactions
ENSG00000168152	chromatin interactions
ENSG00000205794	chromatin interactions
ENSG00000106635	chromatin interactions
ENSG00000248092	chromatin interactions
ENSG00000272888	chromatin interactions
ENSG00000251022	chromatin interactions
ENSG00000213123	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000101191	chromatin interactions
ENSG00000205937	chromatin interactions
ENSG00000248724	chromatin interactions
ENSG00000207715	chromatin interactions

Extended variants
information (count: 1145 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1145 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13159598	chr5:44805926-44805927	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570191727	chr5:44805954-44805955	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs536103321	chr5:44805980-44805981	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs150446106	chr5:44806000-44806001	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs116059192	chr5:44806002-44806003	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs534711400	chr5:44806053-44806054	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs557763598	chr5:44806076-44806077	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs577713263	chr5:44806083-44806084	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs537190267	chr5:44806087-44806088	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs532463642	chr5:44806102-44806103	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs556284095	chr5:44806146-44806147	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs576161203	chr5:44806174-44806175	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs138344925	chr5:44806207-44806208	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs183137922	chr5:44806224-44806225	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs544975128	chr5:44806243-44806244	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs572406613	chr5:44806265-44806266	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs563083829	chr5:44806286-44806287	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs186032896	chr5:44806314-44806315	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs541008270	chr5:44806356-44806357	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs190503586	chr5:44806365-44806366	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs564115275	chr5:44806424-44806425	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs75051899	chr5:44806433-44806434	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs112094553	chr5:44806448-44806449	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs563855469	chr5:44806509-44806510	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs572419176	chr5:44806514-44806515	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs529484536	chr5:44806598-44806599	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs183968000	chr5:44806654-44806655	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs566225280	chr5:44806709-44806710	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs188863796	chr5:44806710-44806711	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs551352789	chr5:44806727-44806728	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs10462083	chr5:44806737-44806738	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs537102129	chr5:44806743-44806744	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs143037904	chr5:44806773-44806774	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs576155413	chr5:44806777-44806778	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs528241770	chr5:44806791-44806792	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs535279441	chr5:44806879-44806880	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs546604066	chr5:44806910-44806911	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs7729135	chr5:44806924-44806925	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs192357187	chr5:44806939-44806940	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs374405078	chr5:44806953-44806954	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs541375534	chr5:44806966-44806967	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs561100870	chr5:44806988-44806989	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs564027486	chr5:44806994-44806995	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs182787475	chr5:44807047-44807048	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs137878058	chr5:44807098-44807099	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs188156499	chr5:44807127-44807128	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs142307626	chr5:44807153-44807154	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs386687768	chr5:44807205-44807206	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs529017745	chr5:44807212-44807213	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs571500937	chr5:44807275-44807276	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:878 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44794200-44808600	Weak transcription	Aorta	Aorta
2	chr5:44799200-44806800	Weak transcription	Dnd41	blood
3	chr5:44802200-44807800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:44805400-44806400	Enhancers	Fetal Lung	lung
5	chr5:44805400-44807400	Flanking Active TSS	Hela-S3	cervix
6	chr5:44806200-44807200	Enhancers	K562	blood
7	chr5:44806400-44806600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr5:44806400-44807000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:44806400-44807200	Enhancers	Brain Anterior Caudate	brain
10	chr5:44806400-44807200	Weak transcription	Fetal Lung	lung
11	chr5:44806400-44809000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:44806600-44808400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:44806800-44807200	Enhancers	Dnd41	blood
14	chr5:44806800-44807400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:44806800-44807400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:44806800-44807600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:44806800-44807800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:44806800-44808000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:44806800-44808200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:44806800-44808600	Enhancers	NHEK	skin
21	chr5:44807000-44807200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:44807000-44807400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr5:44807000-44807600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:44807000-44807800	Enhancers	HMEC	breast
25	chr5:44807000-44808200	Enhancers	GM12878-XiMat	blood
26	chr5:44807200-44807400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:44807200-44807600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:44807200-44807600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:44807200-44807600	Flanking Active TSS	Dnd41	blood
30	chr5:44807200-44807800	Flanking Active TSS	K562	blood
31	chr5:44807200-44808000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:44807200-44808200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:44807200-44808200	Enhancers	Fetal Lung	lung
34	chr5:44807200-44810600	Active TSS	Brain Anterior Caudate	brain
35	chr5:44807200-44811000	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr5:44807400-44807600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr5:44807400-44807600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:44807400-44807600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:44807400-44807600	Enhancers	Colon Smooth Muscle	Colon
40	chr5:44807400-44807600	Enhancers	Fetal Intestine Large	intestine
41	chr5:44807400-44807600	Enhancers	Rectal Smooth Muscle	rectum
42	chr5:44807400-44807600	Active TSS	Hela-S3	cervix
43	chr5:44807400-44808000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:44807400-44808400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr5:44807400-44810200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:44807600-44807800	Flanking Active TSS	Hela-S3	cervix
47	chr5:44807600-44808000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:44807600-44808000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:44807600-44808200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr5:44807600-44808200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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